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Uhrig Sabine |

Presentations at scientific and public conferences

Häusler, M; Uhrig, S; Karpf, E. Genetische Abklärung von Skelettdysplasien.
Keibe. 2012; -26. Arlberger Gynäkologielehrgang.; 23. 1. 28. 1. 2012; Oberlech/Arlberg. [Oral Communication]

Schwerin-Nagel A; Uhrig, S; heitzer E; Wagner K; Gruber-Sedlmayr, U; Lindbichler F; Brunner-Krainz M Bannayan-Riley-Ruvalcaba-Syndrom
Neuropediatrics. 2012; 43(2):-Jahrestagung der Gesellschaft für Neuropädiatrie; April 19-24, 2012; Münster, Germany. [Poster]

Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, M; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, M Verschiedene klinische Manifestationen in einer XLP-1-Familie - Familienanamnese und schnelle Diagnostik können Leben retten
Monatsschrift Kinderheilkunde. 2012; 160: -50. Jahrestagung der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde; Sept 27-29, 2012; Salzburg, AUSTRIA. [Oral Communication]

Uhrig, S RASopathien das Noonan Syndrom und verwandte Erkrankungen von den molekularen Grundlagen zur klinischen Diagnose
50. Jahrestagung der österreichischen Kinder- und Jugendmedizin (ÖGKJ); SEP 27-29, 2012; Salzburg. 2012. [Keynote lecture]
FullText

Kroisel PM, Plecko B, Roetzer KM, Uhrig S, Wagner K Familiäres Auriculo-condyläres Syndrom
27. Syndromenclub der ÖGH ; FEB 4; Salzburg, AUSTRIA. 2011. [Oral Communication]

Roetzer, KM; Obenauf, AC; Schwarzbraun, T; Uhrig, S; Emberger, W; Sodia, S; Mach, M; Vallant, E; Hauser, E; Wagner, K; Kroisel, PM; Speicher, MR Array-CGH for the identification of constitutional copy number changes
DECIPHER Symposium; MAY 19-21, 2010; Cambridge, GREAT BRITAIN. 2010. [Oral Communication]

Obenauf, AC; Schwarzbraun, T; Roetzer, KM; Mach, M; Vallant, E; Kroisel, PM; Uhrig, S; Geigl, JB; Wagner, K; Speicher, MR Array-CGH for the identification of constitutional copy number changes.
Abstractbook of the European Human Genetics Conference 2009; -European Human Genetics Conference; May 23-26, 2009; Vienna, Austria. [Poster]

Obenauf, AC; Schwarzbraun, T; Roetzer, KM; Mach, M; Vallant, E; Kroisel, PM; Uhrig, S; Geigl, JB; Wagner, K; Speicher, MR, Array CGH for the Identification of of constitutional copy number changes
Tagung der österreichischen Gesellschaft für Humangenetik; 2009. [Oral Communication]

Weber-Mzell, D; Lackner, H; Speicher, M; Uhrig, S; Schwarzbraun, T; Schwinger, W; Sovinz, P; Benesch, M; Moser, A; Urban, C Management einer Familie mit XR-vererbtem lymphoproliferativen Syndrom-Typ 1
Monatsschrift Kinderheilkunde 2009; 157(2):193-193.-47. Jahrestagung der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde; 1.-3.10.2009; Graz. [Oral Communication]

Obenauf, AC; Schwarzbraun, T; Kroisel, PM; Uhrig, S; Mach, M; Vallant, EM; Geigl, JB, Wagner, K; Speicher, MR Array CGH for the identification of constitutional copy number changes
Medizinische Genetik. 2008; -Tagung der Gesellschaft für Humangenetik; APRIL 8-10,2008 ; Hannover. [Poster]

Obenauf, AC; Schwarzbraun, T; Kroisel, PM; Uhrig, S; Mach, M; Vallant, EM; Geigl, JB, Wagner, K; Speicher, MR Array CGH for the identification of constitutional copy number changes.
DECIPHER Abstractbook2008; -DECIPHER meeting; MAY 19-21; 2008; Cambridge, UK. [Poster]

Obenauf, AC; Uhrig, S; Schwarzbraun, T; Geigl, JB; Wagner, K; Speicher, MR One year array-CGH in clinical genetics and research.
Abstractbook zur Jahrestagung der Österreichischen Gesellschaft für Humangenetik, 20072007; -Jahrestagung der Österreichischen Gesellschaft für Humangenetik; September 28, 2007; Graz, AUSTRIA. [Oral Communication]

Obenauf, AC; Uhrig, S; Schwarzbraun, T; Wagner, K; Speicher, MR Array-CGH for the identification of constitutional copy number changes
DECIPHER Symposium; MAY 16-18, 2007; Cambridge, United Kingdom. 2007. [Oral Communication]

Bartels, I; Bohlander, SK; Mehraein, Y; Speicher, MR; Uhrig, S; Zoll, B Molecular cytogenetic characterization of a familiar translocation (1;4) with a breakpoint telomeric to the most distal subtelomeric single copy probe known on chromosome 4.
AMER J HUM GENET 1999 65: -.
Web of Science

Brown, J; Saracoglu, K; Uhrig, S; Knight, SJL; Lucas, SJA; Speicher, MR; Eils, R; Kearney, L Development of a multicolour FISH assay for subtelomeric chromosome rearrangements in leukaemia
CYTOGENET CELL GENET 1999 85: 10-10.
Web of Science

Daumer-Haas, C; Uhrig, S; Minderer, S; Fauth, C; Speicher, MR Rare structural rearrangements in prenatal diagnosis characterized by M-FISH
CYTOGENET CELL GENET 1999 85: 37-37.
Web of Science

Eils, R; Bolzer, A; Saracoglu, K; Kraus, J; Fauth, C; Uhrig, S; Speicher, MR High resolution analysis of chromosomes using new M-FISH strategies and multicolor bar coding.
AMER J HUM GENET 1999 65: -.
Web of Science

Eils, R; Bolzer, A; Uhrig, S; Fauth, C; Kraus, J; Gangnus, R; Jentsch, I; Grabowski, M; Cleve, B; Azofeifa, J; Saracoglu, K; Speicher, MR Technical advances in multiplex-FISH (M-FISH) and other multicolor-FISH approaches
CYTOGENET CELL GENET 1999 85: 9-9.
Web of Science

Kooy, RF; Reyniers, E; Uhrig, S; Schoepen, I; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, M; Willems, PJ; Meitinger, T; Holinkski-Feder, E Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation t(3;16)(q29;p13.3).
AMER J HUM GENET 1999 65: A168-A168.
Web of Science

Uhrig, S; Schuffenhauer, S; Fauth, C; Wirtz, A; Daumer-Haas, C; Minderer, S; Lederer, G; Apacik, C; Cohen, VM; Cremer, T; Murken, J; Speicher, MR Detection of cryptic rearrangements by M-FISH and multicolor-chromosomal-bar-codes for the elucidation of intrachromosomal rearrangements
CYTOGENET CELL GENET 1999 85: 168-168.
Web of Science

Speicher, MR; Uhrig, S; Bolzer, A; Cleve, B; Kraus, J; Jauch, A; Eils, R Muliplex-FISH (M-FISH) in cancer and clinical genetics
EUR J HUMAN GENET 1998 6: 26-26.
Web of Science

Speicher, MR; Jauch, A; Eils, R; Uhrig, S; Bolzer, A; Cleve, B; Cremer, T; Bray-Ward, P; Ward, DC M-FISH with whole chromosome painting probes and subtelomere specific probes detects new non-randomly occurring chromosomal aberrations
AMER J HUM GENET 1997 61: -.
Web of Science

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